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Allopurinol is a medication used to decrease high blood uric acid levels. It is specifically used to prevent gout, prevent specific types of kidney stones and for the high uric acid levels that can occur with chemotherapy. It is taken by mouth or injected into a vein.
Pharmacogenomics is the study of the role of the genome in drug response. Its name reflects its combining of pharmacology and genomics. Pharmacogenomics analyzes how the genetic makeup of an individual affects their response to drugs. It deals with the influence of acquired and inherited genetic variation on drug response in patients by correlating DNA mutations with pharmacokinetic, pharmacodynamic, and/or immunogenic endpoints.
Cytochrome P450 2D6 (CYP2D6) is an enzyme that in humans is encoded by the CYP2D6 gene. CYP2D6 is primarily expressed in the liver. It is also highly expressed in areas of the central nervous system, including the substantia nigra.
Cytochrome P450 family 2 subfamily C member 9 is an enzyme protein. The enzyme is involved in metabolism, by oxidation, of both xenobiotics, including drugs, and endogenous compounds, including fatty acids. In humans, the protein is encoded by the CYP2C9 gene. The gene is highly polymorphic, which affects the efficiency of the metabolism by the enzyme.
Harvey James Alter is an American medical researcher, virologist, physician and Nobel Prize laureate, who is best known for his work that led to the discovery of the hepatitis C virus. Alter is the former chief of the infectious disease section and the associate director for research of the Department of Transfusion Medicine at the Warren Grant Magnuson Clinical Center in the National Institutes of Health (NIH) in Bethesda, Maryland. In the mid-1970s, Alter and his research team demonstrated that most post-transfusion hepatitis cases were not due to hepatitis A or hepatitis B viruses. Working independently, Alter and Edward Tabor, a scientist at the U.S. Food and Drug Administration, proved through transmission studies in chimpanzees that a new form of hepatitis, initially called "non-A, non-B hepatitis" caused the infections, and that the causative agent was probably a virus. This work eventually led to the discovery of the hepatitis C virus in 1988, for which he shared the Nobel Prize in Physiology or Medicine in 2020 along with Michael Houghton and Charles M. Rice.
UDP-glucuronosyltransferase 1-1 also known as UGT-1A is an enzyme that in humans is encoded by the UGT1A1 gene.
Russ Biagio Altman is an American professor of bioengineering, genetics, medicine, and biomedical data science and past chairman of the bioengineering department at Stanford University.
The human gene VKORC1 encodes for the enzyme, Vitamin K epOxide Reductase Complex (VKORC) subunit 1. This enzymatic protein complex is responsible for reducing vitamin K 2,3-epoxide to its active form, which is important for effective clotting (coagulation). In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors.
Julia L. Newton is Clinical Professor of Ageing and Medicine and Dean for Clinical Medicine at the School of Clinical Medical Sciences of Newcastle University in Newcastle upon Tyne, England. She is Director of MD Studies in the Faculty of Medical Sciences at Newcastle, and a member of the Pharmacogenomics & Complex Disease Genetics Research Group
Dalcetrapib is a CETP inhibitor which was being developed by Hoffmann–La Roche until May 2012. The drug was aimed at raising the blood levels of HDL cholesterol. Prevailing observations indicate that high HDL levels correlate with better overall cardiovascular health, though it remains unclear whether raising HDL levels consequently leads to an increase in cardiovascular health.
Translational bioinformatics (TBI) is an emerging field in the study of health informatics, focused on the convergence of molecular bioinformatics, biostatistics, statistical genetics and clinical informatics. Its focus is on applying informatics methodology to the increasing amount of biomedical and genomic data to formulate knowledge and medical tools, which can be utilized by scientists, clinicians, and patients. Furthermore, it involves applying biomedical research to improve human health through the use of computer-based information system. TBI employs data mining and analyzing biomedical informatics in order to generate clinical knowledge for application. Clinical knowledge includes finding similarities in patient populations, interpreting biological information to suggest therapy treatments and predict health outcomes.
The Pharmacogenomics Knowledgebase (PharmGKB) is a publicly available, online knowledge base responsible for the aggregation, curation, integration and dissemination of knowledge regarding the impact of human genetic variation on drug response. It is funded by the National Institutes of Health (NIH) National Institute of General Medical Sciences (NIGMS), and is a partner of the NIH Pharmacogenomics Research Network (PGRN). It has been managed at Stanford University since its inception in 2000.
Euan Angus Ashley is a Scottish physician, scientist, author, and founder based at Stanford University in California where he is Associate Dean in the School of Medicine and holds the Roger and Joelle Burnell Chair of Genomics and Precision Health. He is known for helping establish the field of medical genomics.
Elective genetic and genomic testing are DNA tests performed for an individual who does not have an indication for testing. An elective genetic test analyzes selected sites in the human genome while an elective genomic test analyzes the entire human genome. Some elective genetic and genomic tests require a physician to order the test to ensure that individuals understand the risks and benefits of testing as well as the results. Other DNA-based tests, such as a genealogical DNA test do not require a physician's order. Elective testing is generally not paid for by health insurance companies. With the advent of personalized medicine, also called precision medicine, an increasing number of individuals are undertaking elective genetic and genomic testing.
Stephen George Waxman is an American neurologist and neuroscientist. He served as Chairman of the Department of Neurology at Yale School of Medicine, and Neurologist-in-Chief at Yale-New Haven Hospital from 1986 until 2009. As of 2018, he is the Bridget Flaherty Professor of Neurology, Neurobiology, and Pharmacology at Yale University. He founded the Yale University Neuroscience & Regeneration Research Center in 1988 and is its Director. He previously held faculty positions at Harvard Medical School, MIT, and Stanford Medical School. He is also visiting professor at University College London. He is the editor-in-chief of The Neuroscientist and Neuroscience Letters.
Eldad Ben-Chetrit is a professor of Medicine, former Head of the Department of Medicine and former director of the Rheumatology unit (2009-2017) at the Hadassah-Hebrew University Medical Center in Jerusalem. He was a visiting professor at the Oklahoma Medical Research Foundation (1996), at the Biochemistry Department, Stanford University (2004), and at the Gaslini Children Hospital, University of Genoa, Italy, and the Tropical Medicine Clinic, University of Heidelberg, Germany (2016).
Pharmacogene Variation Consortium is an international group of experts that maintains a systematic nomenclature system for allelic variations of genes that affect the metabolism of drugs.
Mary Violet Relling is an American pharmacogeneticist. Relling's research focuses on pharmacokinetics and pharmacodynamics in children and how genome variability influences a child's response to cancer chemotherapy.
Wylie Burke is a Professor Emerita and former Chair of the Department of Bioethics and Humanities at the University of Washington and a founding co-director of the Northwest-Alaska Pharmacogenomics Research Network, which partners with underserved populations in the Pacific Northwest and Alaska.
The Clinical Pharmacogenetics Implementation Consortium (CPIC) is an international consortium including members of NIH Pharmacogenomics Research Network (PGRN), PharmGKB staff, and experts in PGx and medicine, who are committed to facilitating the use of pharmacogenetic tests to improve patient care.
References
- ↑ "Teri E. Klein, PhD, Fellow of the American College of Medical Informatics".
- 1 2 "2021 AAAS Fellows".
- 1 2 "Fellows of ACMI". AMIA - American Medical Informatics Association. Retrieved 2022-10-26.
- ↑ "Teri Klein". www.ncbi.nlm.nih.gov. Retrieved 2022-10-26.
- ↑ "Stanford awarded NIH funding to support ClinGen efforts in pharmacogenomics, autoimmune diseases, and ancestry and diversity in genetic research". October 5, 2021. Retrieved 2022-03-29.
